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Article

Deep phenotyping for precision medicine.

Human mutation - 1 May 2012

Robinson Peter N

Abstract excerpt

In medical contexts, the word "phenotype" is used to refer to some deviation from normal morphology, physiology, or behavior. The analysis of phenotype plays a key role in clinical practice and medical research, and yet phenotypic descriptions in clinical notes and medical publications are often imprecise. Deep phenotyping can be defined as the precise and comprehensive analysis of phenotypic abnormalities in...

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PMID: 22504886
DOI: 10.1002/humu.22080

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